Anonychia and maxillofacial anomalies: an undefined syndrome?
Explore the source record for details and available documents.
SEARCH · Search PubMed
Search indexed PubMed citations on genomics, clinical trials, systematic reviews and public health. Explore titles, authors and supplied subject terms, then open the PubMed record.
Quote a phrase for an exact phrase match. Source license links do not imply unrestricted reuse.
Explore the source record for details and available documents.
Explore the source record for details and available documents.
The involvement of the upper limb in arthrogryposis multiplex congenita for many patients means a far-reaching dependency on outside help. The extension contracture of the elbow joint especially makes it impossible to reach the mouth or to perform hygienic necessities. Therefore, the rehabilitation program includes an improvement of passive elbow flexion by capsulotomy or of active flexion by triceps transfer if possible, or both. In bilateral involvement, the optimal solution is to have one arm in flexion for reaching the head and mouth passively or even actively and one arm in extension for hygienic necessities. From 1973 to 1993 we performed 22 releases of the elbow contracture in 16 children. An additional triceps transfer was performed in five elbows. The overall results showed a marked increase of the range of motion and a functional improvement concerning the daily activities (in 17 children). In 5 children there was no gain but also no loss of functional capacities. In 3 of 5 children with an additional triceps transfer, an improvement of active flexion was attained. Pre- and postoperative physiotherapy is at least as important as the operative procedure itself.
Tibial agenesis is a congenital defect involving major anomalies of both knee and ankle joints, as well as of the adjacent musculotendinous units. A neoarthrosis at the knee joint was formed in two patients by centralizing the fibular head into the inter condylar notch. A neoarthrosis was also formed at the ankle joint by performing a talectomy and displacing the lateral malleolus over the calcaneus. This allowed independent ambulation in both patients, thus avoiding arthrodesis or amputation.
Twenty-eight patients with limb overgrowth and the diagnosis of Klippel-Trenaunay-Weber or Proteus syndromes were evaluated retrospectively. These disorders are part of the phakomatosis spectrum of syndromes. The orthopedic problems consisted of asymmetric limb overgrowth, localized gigantism, angular deformities, scoliosis, vascular malformations, and skin anomalies. Systemic abnormalities are common and deserve full evaluation before treatment. Surgical treatment consisted of epiphysiodesis, osteotomies, debulking procedures, and amputation. Mixed results were obtained with surgery, and conservative or supportive treatment should be the primary mode of orthopedic care.
de Barsy syndrome is a rare, genetically transmitted condition characterized by severe cutis laxa, joint hypermobility, growth retardation, mental retardation, and characteristic facies. Affected individuals have many orthopaedic manifestations, including developmental dysplasia of the hip, scoliosis, multiple joint dislocations and subluxations, and congenital vertical talus. The management of the orthopaedic manifestations of this syndrome is presented in two typical cases.
We report the use of Permagum, a silicone rubber dental-impression material, in the management of neonatal limb deformities. A wide range of custom-made splints can be quickly and easily made from Permagum for both the upper and lower limb. The material is not sufficiently rigid for the older, heavier child but is particularly useful in the neurologically impaired child.
Explore the source record for details and available documents.
The EEC syndrome is a congenital anomaly complex associated with ectrodactyly, ectodermal dysplasia, and cleft lip and palate. We present a patient with the complete form of this syndrome who had undergone eight operations in childhood. The main problems encountered by the anaesthetists were malnutrition, difficulty with control of body temperature related to hypohidrosis and persistent infection of the respiratory tract.
The EEC syndrome is a condition characterized by ectrodactyly, ectodermal dysplasia and clefting of the lip and/or palate. Here we report a case of a boy with the EEC syndrome. The clinical and radiologic aspects of this condition, as well as the dental treatment, are reviewed.
Explore the source record for details and available documents.
Explore the source record for details and available documents.
Explore the source record for details and available documents.
Explore the source record for details and available documents.
Explore the source record for details and available documents.
Explore the source record for details and available documents.
Explore the source record for details and available documents.
Two patients with the oro-facial-digital syndrome II or Mohr syndrome presented laryngeal anomalies and hallucal and postaxial polysyndactyly of the feet. Those rare malformations are typically observed in patients with the Majewski syndrome, a lethal, short rib-polydactyly skeletal dysplasia with orofacial findings almost identical to those of the Mohr syndrome. Phenotypic overlap between the Mohr and the Majewski syndromes has already been reported in the literature, and it has been suggested that the two syndromes may be mild and severe expressions of the same autosomal recessive disorder. Our two cases give further support to this hypothesis.